Germ cell tumours in gonadal dysgenesis (author's transl)

In a 17-year-old patient gonadal dysgenesis with a XY-karyotype was diagnosed by laparoscopy and chromosomal analysis. Two years later, the patient came again to the hospital because of a large tumour which proved to be a dysgerminoma. Except dysgerminomas, other germ cell tumours are also found in gonadal dysgenesis, for example gonadoblastomas, which consist of germinal cells, Sertoli-granulosa-cells and interstitial cells. In most cases of gonadal dysgenesis with a germ cell tumour a Y-chromosome is present. The risk of a gonadal tumour in such cases is estimated to be 25%. In gonadal dysgenesis with a Y-chromosome a prophylactic extirpation of the gonads is necessary, which should be combined with a hysterectomy.